22q deletion chromosone problem

[mumtimestwo]

Hello

not posted here before, but my son's paed is testing for this chromosone disorder.. Does anyone know anything about it, or what symptoms children would have.
I've done some research on the internet and frightend myself. Any real life experiences would be welcomed.

[mumofeight]

Mumtimestwo, firstly stop googling, its no good honestly. I can recommend one website that might help, Max Appeal

But when reading please remember that even if your childs diagnosed with 22q they will not necassarily get everything on the list. I have a very good friend whose dd has 22q, and if your ds is diagnosed, let me know and I will put you in touch with her. I know she will not mind

What symptoms does your ds have ? If you would ratehr not discuss it on a public forum then feel free to email me [email protected]

Take care xx

[Millarkie]

Have you tried www.rarechromo.org - it's a charity called Unique.

[chonky]

Hi mumtimestwo.

India Knight's dd has DiGeorge syndrome, she has a blog, which has regular updates about her dd.

IndiaKnight's blog

Hope everything goes OK with the testing. chonky x

[Tamum]

mumtimestwo, do remember that 22q deletion actually means a whole lot of genes next to each other being deleted. No two unrelated people will have exactly the same set of genes that are deleted because the breakpoints will happen more or less randomly. This means that you can't assume that your son will have the same symptoms you have read about. Chonky is right about India Knight's dd, her blog would be a good thing to read I think. Good luck.

[mumtimestwo]

thanks for these links. I've already had a quick look at the max website.

I think the paed is a bit flummoxed. My son has hypotonia, developmental delay (gross and fine motor), eye sight problems and a few other "minor" things. None of them are very severe, but he is trying to find a cause. He's having blood testing of other things as well.

I'm just not clear whether the chromsone testing will just look for 22q or looks at all chromosones.

[delllie]

I do know a little boy with DiGeorge Syndrome if there are any questions you want to ask.

[Arabica]

Hello mumtimestwo. I'm empathising. My DD (nearly 10 mths) is also being tested for various chromosone deletions, etc, incl 22q (which it's unlikely she has) at Gt Ormond St. She has hypotonia, dysmorphic features and developmental delay, and was in SCBU for 4 weeks when she was born, with feeding problems.
There is a website called Unique which has lots of information about rare chromosone problems.

I am desperate to meet mums in a similar situation (actually desperate probably not the best word to use--don't want you to think I'm bonkers!) so any time you want to chat, I'm here (if we are not out at one of our many hospital appts).

[Arabica]

Sorry forgot to add that the test for 22q doesn't necessarily test for other deletions. There is a new test which is used to look for many different deletions all at once--it's called an 'array' test. That's what DD's getting.

[mumtimestwo]

Arabica,

I know what you mean about being desperate - so don't worry! I don't know whether my son is having the array test. We were told that it would take about 6-8weeks to get the results back, but my paed did say he was doing it to rule it out rather than confirm it.

I suppose I'm worried in case the screening comes up with something else. How did you get referred to GOSH if you don't mind me asking.

[MaryHinge]

mumtimestwo - sorry that you have such worries. I'm in touch with quite a few parents whose children have DiGeorge - all of those though have the heart problems that often accompany it. I see that others have already linked to Unique and Max Appeal.

If you'd like a second opinion and can ask your GP to refer you to a consultant at GOSH. You are entitled to do that.

I hope you don't mind but I also need to hijack your thread to say hello to Arabica! How are you doing? And how is your lovely dd? We miss you on the Runners thread.

(It's me Saggarmakersbottomknocker BTW )

[kreamkrackers]

hi. sorry not read all posts. my dd1 has 22q11 deletion called digeorge syndrome. anything you need to know just ask. she's 3 years old btw.

[kreamkrackers]

ok read through the posts now!

arabica do you have a portage worker? i got one when dd1 was 6 months old. i started going to mums and tots groups organised by them and met some lovely people.

mumtimestwo keep us posted on the results.

[Arabica]

Hi mumtimestwo. Esja has a geneticist who works mainly at GOSH but comes out to do clinics at several other hospitals--we're with the Homerton. (We also go to Hammersmith, for neurology/MRI scans, and have seen an orthapaedic surgeon at Royal London) So far as I know, if you are having a test specifically for one deletion then they can't search for others at the same time.
kreamkrackers, yes I do have a lovely portage worker, she's on about her 4th visit and always brings toys that Esja just loves.
Hi MaryHinge (great name). Can't run due to sacro-iliac joint problems, really anyone who jogs past me looking svelte when I go for a walk.

[floaty]

Mumtimestwo your son sounds very like ours.We had all these tests but they haven't found anything yet and to be honest he is 10 and we have called a halt.Well I've said they can carry on and do any tests they want but i don't want any more appointmenst or bloods for him at the moment.I think it probably is genetic because he does have various markers but they can't quite isolate it.I posted on here when we were dealing with the appointments with addenbrokes adn bluebear was very helpful.

I go through stages of wanting to find a cause but at the moment am very much in a "this is W" stage.I think what has helped is getting as much practical support for him because ultimately even if they find a reason he will still have the problems so we need to find strategies for him to cope.We are lucky he has been at a fantastic scghool who have supported him well,although maths is a complete mystery adn I do sometimes wonder if he has been with them all day in body but not mind!!,We see an osteopath for his muscle tone and we have done physio in the past.Ot was very useful especially as he was in a handwriting group this year (he is now 10)and it was fantastic for him to meet others with similar problems as he really struggles with this.


In september he is tranferrring to a specialist school for dyspraxics,dyslexia ,dyscalculia and sa the head put it the occaisional fragile child.I hope thius will be a good move nad he is looking forward to it but leaving his current school will be a wrench

[Arabica]

Floaty, maybe the new test DD's having might work for you? It's supposed to identify the deletions that other tests can't reach...